A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5699151



Internal ID21725472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:137898332..137898332hg38UCSC Ensembl
chr7:137583078..137583078hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17183763
Samples
Known GenesCREB3L2
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5699151
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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